A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3637264



Internal ID11777918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149198054..149198054hg38UCSC Ensembl
chr5:148577617..148577617hg19UCSC Ensembl
chr5:148557810..148557810hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1067040
Supporting Variants
SamplesHuRef
Known GenesABLIM3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3637264
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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